ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)

dbSNP: rs72653147
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542101 SCV000627209 pathogenic Osteogenesis imperfecta type I 2025-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg882*) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with osteogenesis imperfecta type I (PMID: 15241796, 21667357, 22753364, 26627451, 27044453). ClinVar contains an entry for this variant (Variation ID: 456753). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000578858 SCV000680708 pathogenic not provided 2023-11-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26627451, 31414283, 25533962, 21667357, 16786509, 22753364, 30614853, 27044453, 33939306, 33166682, 35476365, 15241796)
Revvity Omics, Revvity RCV000578858 SCV002017429 pathogenic not provided 2020-06-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279330 SCV002565164 pathogenic Osteogenesis imperfecta 2020-01-01 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535522 SCV001749485 not provided Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 08-03-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Human Development and Health, University of Southampton RCV000578858 SCV002106372 not provided not provided no assertion provided in vitro

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